title: [A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.].
abstract: To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified from agarose gel and sequenced. In both patients, a novel deletion mutation (c. 1286delC) in exon 11 was identified. Compared with the normal product of PAX6 gene, this mutation caused frame shifting, and generated a novel 55 amino acid peptide from codon 309. This deletion also resulted in a premature termination codon (PTC) and preterminated peptide synthesis. Meanwhile, this mutation was absent in all the unaffected family members and 50 normal control individuals through PCR-RFLP.
authors.affiliation: 1. Graduate School, Peking Union Medical College, Beijing 100730, China; 2. Department of Genetics, National Research Institute for Family Planning, Beijing 100081, China; E-mail: tony0828@sohu.com.
authors.forename: Da-Guang
authors.initials: DG
authors.lastname: Sun
authors.forename: Ju-Hua
authors.initials: JH
authors.lastname: Yang
authors.forename: Yi
authors.initials: Y
authors.lastname: Tong
authors.forename: Guang-Jian
authors.initials: GJ
authors.lastname: Zhao
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D015783:Aniridia; D005136:Eye Proteins; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D051761:Paired Box Transcription Factors / Q000235:genetics; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins